Rare diseases · Sign or symptom

Cerebral subcortical cyst

HP:6000461

What it means

A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).

Megalencephalic leukoencephalopathy with subcortical cysts is characterized by subcortical cysts that are present in the anterior temporal region most commonly and often in the frontoparietal region. Later, MRI may only reveal cerebral atrophy. The size and number of the cysts may increase over time. See Figure 1 of PMID:21977097.

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Cerebral subcortical cyst

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.